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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:ventricular septal defect
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Accession:DOID:1657 term browser browse the term
Definition:A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)
Synonyms:exact_synonym: congenital ventricular septal defect;   interventricular septal defect;   intraventricular septal defect;   intraventricular septal defects;   ventricular heart septal defects;   ventricular septal abnormality;   ventricular septal defects
 primary_id: MESH:D006345
 xref: GARD:7853;   ICD10CM:Q21.0;   ICD9CM:745.4;   MIM:PS614429;   NCI:C84506;   ORDO:1480
For additional species annotation, visit the Alliance of Genome Resources.

GViewer not supported for the selected species.

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ventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACVR1 activin A receptor type 1 ISO RGD PMID:22536403 RGD:329337340 NCBI chr10:43,139,396...43,281,024
Ensembl chr10:43,139,528...43,281,177 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More... NCBI chr21:109,495,525...109,690,261 JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:18414213 PMID:25741868 PMID:28492532 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
G EPO erythropoietin ISO CTD Direct Evidence: marker/mechanism CTD PMID:19337937 NCBI chr28:12,487,222...12,491,986
Ensembl chr28:12,489,766...12,491,908 		JBrowse link
G EVC EvC ciliary complex subunit 1 ISO DNA:SNP::c.1727G>A(human) RGD PMID:29257216 RGD:155260289 NCBI chr27:41,853,475...41,944,584
Ensembl chr27:41,861,918...41,944,333 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO RGD PMID:16687131 RGD:155663670 NCBI chr 9:114,234,344...114,354,736
Ensembl chr 9:114,234,250...114,354,704 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:28492532 NCBI chr  X:128,657,580...128,683,812
Ensembl chr  X:128,657,393...128,680,531 		JBrowse link
G FOXF1 forkhead box F1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr 5:71,898,473...71,902,624
Ensembl chr 5:71,898,786...71,903,661 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutation:cds:c.595C>G (p.L199V)(human) RGD PMID:22536403 PMID:22961344 RGD:155260356 RGD:329337340 NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G GATA6 GATA binding protein 6 ISO DNA:missense mutation:cds:p.G220S (human)
DNA:missense mutation:cds:p.D404Y (human)		 RGD PMID:22407241 PMID:23020118 RGD:13208872 RGD:13208873 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G IGF2 insulin like growth factor 2 treatment ISO RGD PMID:21238444 RGD:13204804 NCBI chr 1:1,937,414...1,951,238
Ensembl chr 1:1,936,830...1,945,388 		JBrowse link
G ISL1 ISL LIM homeobox 1 susceptibility ISO DNA:SNP: :rs1017(human)
DNA:polymorphisms: :rs3762977,IVS1+17C(human)		 RGD PMID:23572340 PMID:24634231 RGD:243048461 RGD:243049248 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G MMP9 matrix metallopeptidase 9 severity ISO RGD PMID:21238444 RGD:13204804 NCBI chr 2:17,867,267...17,874,757
Ensembl chr 2:17,867,177...17,874,712 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr14:91,685,376...91,692,091 JBrowse link
G NFATC1 nuclear factor of activated T cells 1 susceptibility ISO DNA:SNPs,haplotype: :rs7240256,rs11665469,rs754505 (human)
DNA:repeats: :		 RGD PMID:21499900 PMID:23286482 RGD:243065234 RGD:268530901 NCBI chr18:690,313...815,804
Ensembl chr18:689,671...811,100 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.P59A (c.175C>G) (human)		 CTD
RGD		 PMID:21165553 RGD:12914792 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NKX2-6 NK2 homeobox 6 susceptibility ISO DNA:missense mutation:CDS:p.K152Q (human) RGD PMID:25380965 RGD:155882444 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 NCBI chr27:46,787,325...46,896,898
Ensembl chr27:46,787,154...46,867,792 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr12:86,907,173...87,367,935
Ensembl chr12:87,042,557...87,367,033 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO RGD PMID:25691540 RGD:243048427 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		JBrowse link
G ROBO2 roundabout guidance receptor 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr22:99,334,033...101,101,924 JBrowse link
G RYR1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:16835904 PMID:24033266 PMID:25741868 NCBI chr 6:33,080,443...33,234,478
Ensembl chr 6:33,080,758...33,213,788 		JBrowse link
G SALL4 spalt like transcription factor 4 ISO DNA:missense mutations:cds:p.R196W, p.S797C (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:19619907 PMID:30067223 RGD:11556206 NCBI chr 2:12,179,721...12,199,629
Ensembl chr 2:12,182,357...12,199,321 		JBrowse link
G SLIT2 slit guidance ligand 2 ISO RGD PMID:25691540 RGD:243048427 NCBI chr27:29,650,589...30,020,105
Ensembl chr27:29,650,337...29,803,612 		JBrowse link
G SMARCA4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Ventricular septal defect ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:9,943,162...10,044,476 JBrowse link
G TBX1 T-box transcription factor 1 ISO DNA:SNP:promoter:g.4199C>T (human) RGD PMID:22801995 RGD:155631302 NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter RGD PMID:30084275 RGD:155882594 NCBI chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		JBrowse link
G TCF21 transcription factor 21 susceptibility ISO DNA:SNPs:3'UTR: (rs12190287) (human) RGD PMID:28346832 RGD:329337362 NCBI chr13:39,607,179...39,610,336
Ensembl chr13:39,607,182...39,610,388 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO RGD PMID:25196150 RGD:155882481 NCBI chr 8:100,138,867...100,620,355 JBrowse link
atrioventricular septal defect term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr24:31,097,673...31,104,774
Ensembl chr24:31,097,538...31,101,225 		JBrowse link
G CCN1 cellular communication network factor 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO
RGD		 PMID:17023674 RGD:329845526 NCBI chr20:47,783,270...47,786,216
Ensembl chr20:47,783,935...47,785,997 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr 8:56,654,939...56,782,803
Ensembl chr 8:56,657,826...56,785,804 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr21:36,350,606...36,722,018
Ensembl chr21:36,350,707...36,720,511 		JBrowse link
G ELN elastin ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr28:8,999,164...9,048,703 JBrowse link
G FOXP1 forkhead box P1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 PMID:28492532 NCBI chr22:31,907,941...32,538,294
Ensembl chr22:31,912,460...32,154,502 		JBrowse link
G GATA4 GATA binding protein 4 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G GATA6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G GLYR1 glyoxylate reductase 1 homolog ISO OMIM:600309 | OMIM:606215 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr 5:4,473,222...4,518,150
Ensembl chr 5:4,475,227...4,518,071 		JBrowse link
G IFT172 intraflagellar transport 172 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr14:80,130,436...80,171,259 JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:600309 | OMIM:606215 | OMIM:606217 | OMIM:614430 | OMIM:614474 MouseDO NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, somatic ClinVar PMID:15342699 PMID:15917268 NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NR1D2 nuclear receptor subfamily 1 group D member 2 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:27058611 NCBI chr15:68,632,142...68,668,467
Ensembl chr15:68,632,197...68,665,258 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:19538633 RGD:12801428 NCBI chr21:123,929,937...123,942,451
Ensembl chr21:123,932,900...123,942,395 		JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:11799392 PMID:15880370 PMID:16840568 PMID:17089404 PMID:18805831 More... NCBI chr10:102,253,187...102,319,356
Ensembl chr10:102,255,453...102,319,330 		JBrowse link
G TBX5 T-box transcription factor 5 ISO ClinVar Annotator: match by term: AVC DEFECT ClinVar PMID:25741868 NCBI chr11:109,638,694...109,696,619
Ensembl chr11:109,638,715...109,689,177 		JBrowse link
Atrioventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARPC4 actin related protein 2/3 complex subunit 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,799,225...45,814,343
Ensembl chr22:45,799,645...45,814,870 		JBrowse link
G ATP2B2 ATPase plasma membrane Ca2+ transporting 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,360,306...46,742,446
Ensembl chr22:46,368,243...46,662,220 		JBrowse link
G BRK1 BRICK1 subunit of SCAR/WAVE actin nucleating complex ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,157,063...46,169,833
Ensembl chr22:46,156,652...46,170,546 		JBrowse link
G BRPF1 bromodomain and PHD finger containing 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,740,192...45,756,327
Ensembl chr22:45,740,351...45,756,390 		JBrowse link
G CAMK1 calcium/calmodulin dependent protein kinase I ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,763,799...45,776,792
Ensembl chr22:45,762,499...45,774,597 		JBrowse link
G CAV3 caveolin 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,726,597...44,740,456
Ensembl chr22:44,727,624...44,740,459 		JBrowse link
G CIDEC cell death inducing DFFA like effector c ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,895,455...45,917,236
Ensembl chr22:45,895,249...45,910,658 		JBrowse link
G CPNE9 copine family member 9 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,714,168...45,738,368 JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 susceptibility ISO ClinVar Annotator: match by term: Atrioventricular septal defect 2 | ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 | ClinVar Annotator: match by term: CRELD1-related condition ClinVar
OMIM		 PMID:11376440 PMID:12632326 PMID:15857420 PMID:17036335 PMID:21080147 More... NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G EMC3 ER membrane protein complex subunit 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:45,990,708...46,015,697
Ensembl chr22:45,987,731...46,015,712 		JBrowse link
G FANCD2 FA complementation group D2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,072,797...46,141,107
Ensembl chr22:46,072,761...46,140,713 		JBrowse link
G FANCD2OS FANCD2 opposite strand ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,144,575...46,150,638
Ensembl chr22:46,144,859...46,145,392 		JBrowse link
G GHRL ghrelin and obestatin prepropeptide ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,326,458...46,332,906
Ensembl chr22:46,325,913...46,330,962 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:42,901,451...43,779,815 JBrowse link
G IL17RC interleukin 17 receptor C ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,944,385...45,960,188
Ensembl chr22:45,944,669...45,960,164 		JBrowse link
G IL17RE interleukin 17 receptor E ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,929,339...45,943,749 JBrowse link
G IRAK2 interleukin 1 receptor associated kinase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,204,600...46,279,863
Ensembl chr22:46,204,893...46,278,260 		JBrowse link
G JAGN1 jagunal homolog 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,917,319...45,921,082
Ensembl chr22:45,917,444...45,920,250 		JBrowse link
G LHFPL4 LHFPL tetraspan subfamily member 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,502,763...45,556,828 JBrowse link
G LMCD1 LIM and cysteine rich domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,531,441...44,598,612 JBrowse link
G MTMR14 myotubularin related protein 14 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,650,544...45,704,237
Ensembl chr22:45,650,556...45,713,176 		JBrowse link
G OGG1 8-oxoguanine DNA glycosylase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,757,414...45,763,690 JBrowse link
G OXTR oxytocin receptor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,746,108...44,764,501
Ensembl chr22:44,742,419...44,763,243 		JBrowse link
G PRRT3 proline rich transmembrane protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:45,970,474...45,978,764
Ensembl chr22:45,971,148...45,975,076 		JBrowse link
G RAD18 RAD18 E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,878,015...44,960,610
Ensembl chr22:44,875,292...44,960,089 		JBrowse link
G RPUSD3 RNA pseudouridine synthase D3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,848,749...45,857,122
Ensembl chr22:45,848,788...45,857,117 		JBrowse link
G SEC13 SEC13 homolog, nuclear pore and COPII coat complex component ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,336,909...46,357,435
Ensembl chr22:46,336,829...46,355,723 		JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G SLC6A1 solute carrier family 6 member 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:47,033,436...47,076,785
Ensembl chr22:47,033,467...47,078,844 		JBrowse link
G SLC6A11 solute carrier family 6 member 11 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,857,117...46,978,652
Ensembl chr22:46,857,569...46,978,088 		JBrowse link
G SRGAP3 SLIT-ROBO Rho GTPase activating protein 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,979,675...45,355,753
Ensembl chr22:44,984,615...45,246,209 		JBrowse link
G SSUH2 ssu-2 homolog ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:44,651,125...44,680,476
Ensembl chr22:44,651,663...44,666,516 		JBrowse link
G TADA3 transcriptional adaptor 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,787,945...45,799,529
Ensembl chr22:45,786,012...45,798,019 		JBrowse link
G TATDN2 TatD DNase domain containing 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:46,284,624...46,321,473
Ensembl chr22:46,284,685...46,321,710 		JBrowse link
G THUMPD3 THUMP domain containing 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,355,889...45,378,134
Ensembl chr22:45,355,579...45,377,941 		JBrowse link
G TTLL3 tubulin tyrosine ligase like 3 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:28492532 NCBI chr22:45,817,048...45,843,878 JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Atrioventricular septal defect, susceptibility to, 2 ClinVar PMID:25516202 PMID:28492532 NCBI chr22:46,184,621...46,203,065
Ensembl chr22:46,184,756...46,204,428 		JBrowse link
Atrioventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 3 ClinVar PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
Atrioventricular Septal Defect 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLK BLK proto-oncogene, Src family tyrosine kinase ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,547,200...7,618,645
Ensembl chr 8:7,547,299...7,569,188 		JBrowse link
G CTSB cathepsin B ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,246,076...7,269,655
Ensembl chr 8:7,246,013...7,268,854 		JBrowse link
G FDFT1 farnesyl-diphosphate farnesyltransferase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,272,580...7,306,859
Ensembl chr 8:7,271,509...7,306,760 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 OMIM
ClinVar		 PMID:2087424 PMID:9536098 PMID:12845333 PMID:12939651 PMID:15235040 More... NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G NEIL2 nei like DNA glycosylase 2 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 4 ClinVar PMID:19353638 PMID:21933911 PMID:22318994 PMID:24127225 PMID:25205790 More... NCBI chr 8:7,319,721...7,338,683
Ensembl chr 8:7,319,585...7,338,602 		JBrowse link
Atrioventricular Septal Defect 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19666519 PMID:20581743 More... NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G MIB1 MIB E3 ubiquitin protein ligase 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect 5 ClinVar PMID:22318994 PMID:28492532 NCBI chr18:58,628,381...58,759,692
Ensembl chr18:58,633,926...58,759,609 		JBrowse link
Atrioventricular Septal Defect and Common Atrioventricular Junction term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction ClinVar PMID:11470490 PMID:22090377 PMID:25741868 PMID:28492532 PMID:30653986 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
Common Ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Single ventricle ClinVar PMID:19948535 PMID:23285148 PMID:25742962 PMID:28492532 PMID:29037160 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
Congenital Heart Defects, Multiple Types, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FLT4 fms related receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Congenital heart defects, multiple types, 7 OMIM
ClinVar		 PMID:23074044 PMID:24033266 PMID:25741868 PMID:28991257 PMID:30232381 More... NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
Conotruncal Cardiac Defects term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADD1 adducin 1 ISO DNA:SNP: :p.G460W (human) RGD PMID:16100725 RGD:5147996 NCBI chr27:45,811,611...45,901,277
Ensembl chr27:45,813,496...45,900,778 		JBrowse link
G BIN3 bridging integrator 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,700,664...20,748,775
Ensembl chr 8:20,701,390...20,725,210 		JBrowse link
G BMP1 bone morphogenetic protein 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,234,242...20,281,768
Ensembl chr 8:20,234,184...20,283,467 		JBrowse link
G CCAR2 cell cycle and apoptosis regulator 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,685,482...20,700,424
Ensembl chr 8:20,686,504...20,699,707 		JBrowse link
G CHMP7 charged multivesicular body protein 7 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,370,334...21,390,036
Ensembl chr 8:21,373,968...21,387,698 		JBrowse link
G CUNH8orf58 chromosome unknown C8orf58 homolog ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,680,207...20,684,351
Ensembl chr 8:20,680,342...20,684,332 		JBrowse link
G DMTN dematin actin binding protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,120,054...20,154,368
Ensembl chr 8:20,125,703...20,152,985 		JBrowse link
G EGR3 early growth response 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,767,219...20,772,838
Ensembl chr 8:20,767,224...20,772,682 		JBrowse link
G ENTPD4 ectonucleoside triphosphate diphosphohydrolase 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,528,520...21,574,330
Ensembl chr 8:21,543,888...21,574,311 		JBrowse link
G FGF17 fibroblast growth factor 17 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,111,858...20,119,785
Ensembl chr 8:20,116,561...20,119,746 		JBrowse link
G FHIP2B FHF complex subunit HOOK interacting protein 2B ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,159,036...20,173,973
Ensembl chr 8:20,167,153...20,172,511 		JBrowse link
G FOXH1 forkhead box H1 ISO ClinVar Annotator: match by term: Conotruncal defect ClinVar PMID:25741868 PMID:32003456 NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:19666519 PMID:25741868 PMID:28492532 PMID:29101065 PMID:31301121 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,183,797...20,207,510
Ensembl chr 8:20,183,677...20,198,700 		JBrowse link
G LGI3 leucine rich repeat LGI family member 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,216,373...20,226,744
Ensembl chr 8:20,216,372...20,225,599 		JBrowse link
G LOC103215471 tumor necrosis factor receptor superfamily member 10D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,242,378...21,300,551 JBrowse link
G LOC103215717 uncharacterized LOC103215717 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,172,978...21,216,474 JBrowse link
G LOXL2 lysyl oxidase like 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,416,821...21,516,923
Ensembl chr 8:21,416,787...21,516,854 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase no_association ISO DNA:SNPs:cds:c.677C>T,c.1298A>C (human) RGD PMID:12705333 RGD:11565174 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations | ClinVar Annotator: match by term: Truncus arteriosus communis
ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Truncus arteriosus communis		 OMIM
ClinVar		 PMID:9651244 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NKX2-6 NK2 homeobox 6 ISO ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:15649947 PMID:24421281 PMID:25741868 PMID:28492532 NCBI chr 8:21,820,940...21,827,124
Ensembl chr 8:21,821,711...21,825,801 		JBrowse link
G NKX3-1 NK3 homeobox 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,792,069...21,797,258
Ensembl chr 8:21,791,422...21,796,319 		JBrowse link
G NUDT18 nudix hydrolase 18 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,176,500...20,184,637 JBrowse link
G PDLIM2 PDZ and LIM domain 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,658,642...20,674,915
Ensembl chr 8:20,659,361...20,674,900 		JBrowse link
G PEBP4 phosphatidylethanolamine binding protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,792,718...21,066,746
Ensembl chr 8:20,792,707...21,004,134 		JBrowse link
G PHYHIP phytanoyl-CoA 2-hydroxylase interacting protein ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,289,215...20,301,495
Ensembl chr 8:20,289,512...20,297,577 		JBrowse link
G PIWIL2 piwi like RNA-mediated gene silencing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,347,998...20,436,016
Ensembl chr 8:20,352,771...20,433,947 		JBrowse link
G POLR3D RNA polymerase III subunit D ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,314,020...20,320,118
Ensembl chr 8:20,314,081...20,319,455 		JBrowse link
G PPP3CC protein phosphatase 3 catalytic subunit gamma ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,522,829...20,621,445 JBrowse link
G R3HCC1 R3H domain and coiled-coil containing 1 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,407,791...21,415,927 JBrowse link
G REEP4 receptor accessory protein 4 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,207,609...20,211,509
Ensembl chr 8:20,207,592...20,211,417 		JBrowse link
G RHOBTB2 Rho related BTB domain containing 2 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,069,255...21,098,000
Ensembl chr 8:21,079,411...21,097,026 		JBrowse link
G SFTPC surfactant protein C ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,229,756...20,233,568
Ensembl chr 8:20,230,870...20,234,020 		JBrowse link
G SLC25A37 solute carrier family 25 member 37 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,646,854...21,691,812
Ensembl chr 8:21,646,869...21,694,938 		JBrowse link
G SLC39A14 solute carrier family 39 member 14 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,446,756...20,502,585 JBrowse link
G SORBS3 sorbin and SH3 domain containing 3 ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:20,627,947...20,655,700
Ensembl chr 8:20,630,437...20,656,154 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Conotruncal anomaly face syndrome | ClinVar Annotator: match by term: Conotruncal cardiac defects | ClinVar Annotator: match by term: Conotruncal heart malformations OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:14585638 PMID:15355425 PMID:15703190 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TBX2 T-box transcription factor 2 susceptibility ISO DNA:SNP:3'UTR:rs59382073(human) RGD PMID:30262811 RGD:401794414 NCBI chr16:32,627,296...32,636,797
Ensembl chr16:32,627,819...32,636,880 		JBrowse link
G TNFRSF10A TNF receptor superfamily member 10a ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,318,987...21,351,641
Ensembl chr 8:21,315,149...21,351,673 		JBrowse link
G TNFRSF10B TNF receptor superfamily member 10b ISO ClinVar Annotator: match by term: Conotruncal heart malformations ClinVar PMID:28492532 NCBI chr 8:21,101,945...21,150,362
Ensembl chr 8:21,102,267...21,150,267 		JBrowse link
double outlet right ventricle term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G DLL4 delta like canonical Notch ligand 4 susceptibility ISO RGD PMID:34859965 RGD:155663381 NCBI chr26:42,056,473...42,066,283
Ensembl chr26:42,056,331...42,065,828 		JBrowse link
G ECE1 endothelin converting enzyme 1 ISO OMIM:217095 MouseDO NCBI chr20:111,212,567...111,342,755
Ensembl chr20:111,212,594...111,342,821 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:17924340 PMID:25741868 Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G ISL1 ISL LIM homeobox 1 ISO DNA:mutation:cds:c.225C>G(human) RGD PMID:31484864 RGD:243048467 NCBI chr 4:47,665,861...47,678,631
Ensembl chr 4:47,666,536...47,677,552 		JBrowse link
G LOC103247122 cryptic protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:11799476
G MYCN MYCN proto-oncogene, bHLH transcription factor ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:25741868 NCBI chr14:91,685,376...91,692,091 JBrowse link
G SETD5 SET domain containing 5 ISO RGD PMID:34050709 RGD:155794379 NCBI chr22:45,391,871...45,475,183
Ensembl chr22:45,430,660...45,475,217 		JBrowse link
G YES1 YES proto-oncogene 1, Src family tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24478334 NCBI chr18:60,086,011...60,168,973
Ensembl chr18:60,088,525...60,120,114 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Double outlet right ventricle ClinVar PMID:14517948 PMID:17568391 PMID:20807224 PMID:21919901 PMID:24702427 More... NCBI chr 8:100,138,867...100,620,355 JBrowse link
Floating-Harbor syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SRCAP Snf2 related CREBBP activator protein ISO ClinVar Annotator: match by term: Floating-Harbor syndrome | ClinVar Annotator: match by term: Pelletier-Leisti syndrome | ClinVar Annotator: match by term: SRCAP-related condition OMIM
ClinVar		 PMID:9536098 PMID:11522779 PMID:11746027 PMID:17576681 PMID:18414213 More... NCBI chr 5:27,386,923...27,428,360
Ensembl chr 5:27,389,572...27,427,953 		JBrowse link
Hypertelorism and Tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXC1 forkhead box C1 ISO ClinVar Annotator: match by term: Hypertelorism and tetralogy of fallot ClinVar PMID:25741868 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		JBrowse link
Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Atrioventricular septal defect, partial, with heterotaxy syndrome ClinVar PMID:12632326 PMID:24697899 PMID:28492532 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
tetralogy of Fallot term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN2 actinin alpha 2 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:20022194 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr25:73,827,900...73,904,516
Ensembl chr25:73,827,874...73,905,146 		JBrowse link
G BMP10 bone morphogenetic protein 10 ISO OMIM:187500 MouseDO NCBI chr14:38,253,093...38,260,027
Ensembl chr14:38,253,890...38,259,621 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G CERS1 ceramide synthase 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 NCBI chr 6:17,331,021...17,351,542 JBrowse link
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO OMIM:187500 MouseDO NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G DNAH5 dynein axonemal heavy chain 5 ISO OMIM:187500 MouseDO NCBI chr 4:13,401,980...13,718,900
Ensembl chr 4:13,401,092...13,652,755 		JBrowse link
G DOCK1 dedicator of cytokinesis 1 ISO OMIM:187500 MouseDO NCBI chr 9:119,519,230...120,064,767 JBrowse link
G EPHB4 EPH receptor B4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr28:12,389,884...12,416,746
Ensembl chr28:12,389,942...12,416,920 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO OMIM:187500 MouseDO NCBI chr 9:94,797,157...94,803,725
Ensembl chr 9:94,798,088...94,803,629 		JBrowse link
G FLNC filamin C ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:27908349 NCBI chr21:97,431,666...97,460,178
Ensembl chr21:97,431,648...97,461,135 		JBrowse link
G FLT4 fms related receptor tyrosine kinase 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28991257 NCBI chr23:82,328,257...82,373,785
Ensembl chr23:82,328,258...82,357,044 		JBrowse link
G FOXC1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr17:70,533,048...70,536,555
Ensembl chr17:70,534,821...70,536,476 		JBrowse link
G FOXC2 forkhead box C2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 5:71,951,980...71,955,021
Ensembl chr 5:71,952,632...71,954,134 		JBrowse link
G FOXH1 forkhead box H1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 8:138,685,137...138,688,451
Ensembl chr 8:138,685,626...138,687,144 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:17643447 PMID:18055909 PMID:18076106 PMID:18672102 PMID:19302747 More... NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G GATA5 GATA binding protein 5 ISO DNA:mutations:cds:c.559C>G,p.R187G, c.620A>G, p.H207R (human) RGD PMID:23289003 RGD:155260350 NCBI chr 2:1,756,911...1,769,452
Ensembl chr 2:1,757,420...1,768,143 		JBrowse link
G GATA6 GATA binding protein 6 ISO ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:20581743 PMID:20631719 PMID:25741868 PMID:28492532 PMID:29389947 NCBI chr18:58,312,328...58,345,472
Ensembl chr18:58,311,482...58,343,746 		JBrowse link
G GDF1 growth differentiation factor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:17924340 PMID:25741868 PMID:28492532 Ensembl chr 6:17,329,143...17,330,837 JBrowse link
G GJA1 gap junction protein alpha 1 ISO RGD PMID:16010294 RGD:1582666 NCBI chr13:52,397,291...52,410,341
Ensembl chr13:52,396,109...52,410,339 		JBrowse link
G GJA5 gap junction protein alpha 5 ISO DNA:duplications
OMIM:187500		 RGD
MouseDO		 PMID:22199024 RGD:7207464
G HAND2 heart and neural crest derivatives expressed 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25093829 NCBI chr 7:119,635,697...119,639,415
Ensembl chr 7:119,634,741...119,638,546 		JBrowse link
G HEY2 hes related family bHLH transcription factor with YRPW motif 2 ISO OMIM:187500 MouseDO NCBI chr13:47,965,808...47,977,435
Ensembl chr13:47,964,847...47,977,346 		JBrowse link
G HIRA histone cell cycle regulator ISO mRNA,protein:decreased expression: myocardium : RGD PMID:27748330 RGD:401851914 NCBI chr19:6,324,050...6,424,999
Ensembl chr19:6,324,253...6,425,641 		JBrowse link
G INVS inversin ISO OMIM:187500 MouseDO NCBI chr12:39,138,586...39,333,758
Ensembl chr12:39,139,505...39,333,661 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:1,712,382...1,723,284
Ensembl chr 4:1,718,737...1,723,403 		JBrowse link
G JAG1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:10220506 PMID:10533065 PMID:11058898 PMID:11139239 More... NCBI chr 2:27,484,699...27,521,108
Ensembl chr 2:27,484,760...27,522,504 		JBrowse link
G KDR kinase insert domain receptor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar NCBI chr 7:13,435,059...13,482,236
Ensembl chr 7:13,435,096...13,482,771 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 ISO OMIM:187500 MouseDO NCBI chr16:35,182,276...35,196,167
Ensembl chr16:35,182,568...35,199,858 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:p.R653Q(c.1958G>A)(human) RGD PMID:18767138 RGD:12910957 NCBI chr24:41,590,655...41,663,551
Ensembl chr24:41,590,590...41,666,952 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:SNP: : rs1801133(human) RGD PMID:22868813 RGD:11565105 NCBI chr20:119,987,667...120,003,611
Ensembl chr20:119,990,133...120,002,950 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 NCBI chr 4:35,748,112...35,940,075
Ensembl chr 4:35,829,386...35,941,271 		JBrowse link
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:10587520 PMID:10903346 PMID:11714651 PMID:12074273 PMID:12798584 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
G NOTCH1 notch receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:19597493 PMID:27760138 NCBI chr12:1,656,815...1,707,566
Ensembl chr12:1,656,918...1,709,585 		JBrowse link
G NRP1 neuropilin 1 susceptibility ISO DNA:SNP: :rs2228638(human) RGD PMID:29432830 RGD:401901152 NCBI chr 9:32,474,787...32,632,746
Ensembl chr 9:32,474,309...32,633,101 		JBrowse link
G NTF3 neurotrophin 3 ISO OMIM:187500 MouseDO NCBI chr11:5,477,208...5,542,404 JBrowse link
G PHC1 polyhomeotic homolog 1 ISO OMIM:187500 MouseDO NCBI chr11:8,733,769...8,759,430
Ensembl chr11:8,733,988...8,758,600 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 susceptibility ISO DNA:snp:intron:c.757-4333A>G (rs11066320) (human) RGD PMID:22503907 RGD:12743641 NCBI chr11:107,658,495...107,754,457
Ensembl chr11:107,658,453...107,752,637 		JBrowse link
G RET ret proto-oncogene ISO ClinVar Annotator: match by term: Fallot tetralogy ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 9:38,746,088...38,798,773
Ensembl chr 9:38,769,170...38,796,712 		JBrowse link
G ROBO1 roundabout guidance receptor 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:25741868 PMID:28492532 PMID:28592524 PMID:29194579 PMID:35227688 NCBI chr22:97,178,093...98,363,647
Ensembl chr22:98,222,891...98,363,219 		JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:9536098 PMID:11748311 PMID:15355425 PMID:17576681 PMID:18375573 More... NCBI chr19:5,980,114...5,986,313
Ensembl chr19:5,980,587...5,987,244 		JBrowse link
G TBX20 T-box transcription factor 20 ISO DNA:hypomethylation:promoter
mRNA:increased expression:heart (human)		 RGD PMID:18275040 PMID:31138201 RGD:155882584 RGD:155882585 NCBI chr21:23,166,020...23,222,416
Ensembl chr21:23,166,109...23,224,657 		JBrowse link
G TPM1 tropomyosin 1 ISO ClinVar Annotator: match by term: Tetralogy of Fallot ClinVar PMID:28359939 NCBI chr26:20,458,287...20,487,387
Ensembl chr26:20,466,037...20,487,135 		JBrowse link
G ZFPM2 zinc finger protein, FOG family member 2 ISO ClinVar Annotator: match by term: Fallot tetralogy | ClinVar Annotator: match by term: Tetralogy of Fallot OMIM
ClinVar		 PMID:14517948 PMID:20807224 PMID:24033266 PMID:24549039 PMID:24702427 More... NCBI chr 8:100,138,867...100,620,355 JBrowse link
Ventricular Septal Defect 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP2 bone morphogenetic protein 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:31,349,394...31,361,227
Ensembl chr 2:31,348,808...31,360,901 		JBrowse link
G BMP7 bone morphogenetic protein 7 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 2:6,856,396...6,954,948
Ensembl chr 2:6,856,453...6,954,944 		JBrowse link
G CRELD1 cysteine rich with EGF like domains 1 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr22:45,960,253...45,969,973
Ensembl chr22:45,961,010...45,969,712 		JBrowse link
G GATA4 GATA binding protein 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 OMIM
ClinVar		 PMID:17643447 PMID:18076106 PMID:18672102 PMID:19302747 PMID:19678963 More... NCBI chr 8:7,348,145...7,432,574
Ensembl chr 8:7,349,660...7,400,562 		JBrowse link
G IRX4 iroquois homeobox 4 ISO ClinVar Annotator: match by term: Ventricular septal defect 1 ClinVar NCBI chr 4:1,712,382...1,723,284
Ensembl chr 4:1,718,737...1,723,403 		JBrowse link
Ventricular Septal Defect 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CITED2 Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 ISO ClinVar Annotator: match by term: Ventricular septal defect 2 OMIM
ClinVar		 PMID:16287139 PMID:25741868 NCBI chr13:34,009,527...34,011,924
Ensembl chr13:34,010,228...34,011,046 		JBrowse link
Ventricular Septal Defect 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NKX2-5 NK2 homeobox 5 ISO ClinVar Annotator: match by term: Ventricular septal defect 3 OMIM
ClinVar		 PMID:11714651 PMID:12074273 PMID:12798584 PMID:14607454 PMID:15161646 More... NCBI chr23:75,391,833...75,399,003
Ensembl chr23:75,391,847...75,395,205 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15338
    Developmental Disease 13373
      congenital heart disease 1359
        heart septal defect 217
          ventricular septal defect 158
            Aneurysm of Interventricular Septum 0
            Brachydactyly, Intraventricular Septal Defect, and Deafness 0
            Common Ventricle 1
            Floating-Harbor syndrome 1
            Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
            Laurence Prosser Rocker Syndrome 0
            Partial Atrioventricular Canal 0
            Ventricular Septal Defect 1 5
            Ventricular Septal Defect 2 1
            Ventricular Septal Defect 3 1
            atrioventricular septal defect + 59
            double outlet right ventricle + 50
            tetralogy of Fallot + 44
Path 2
Term Annotations click to browse term
  disease 15338
    Developmental Disease 13373
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12497
        Congenital Abnormalities 7550
          Cardiovascular Abnormalities 1550
            congenital heart disease 1359
              heart septal defect 217
                ventricular septal defect 158
                  Aneurysm of Interventricular Septum 0
                  Brachydactyly, Intraventricular Septal Defect, and Deafness 0
                  Common Ventricle 1
                  Floating-Harbor syndrome 1
                  Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect 0
                  Laurence Prosser Rocker Syndrome 0
                  Partial Atrioventricular Canal 0
                  Ventricular Septal Defect 1 5
                  Ventricular Septal Defect 2 1
                  Ventricular Septal Defect 3 1
                  atrioventricular septal defect + 59
                  double outlet right ventricle + 50
                  tetralogy of Fallot + 44
paths to the root